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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▼ |
|---|---|---|---|---|---|
| C0035067 | Renal Artery Stenosis | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0030421 | Paraganglioma | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0239946 | Fibrosis, Liver | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0021390 | Inflammatory Bowel Diseases | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C1140680 | Malignant neoplasm of ovary | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C4721610 | Carcinoma, Ovarian Epithelial | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0027651 | Neoplasms | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0494463 | Alzheimer Disease, Late Onset | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0019158 | Hepatitis | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0033860 | Psoriasis | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0919267 | ovarian neoplasm | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0010346 | Crohn Disease | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0020179 | Huntington Disease | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0030567 | Parkinson Disease | SPTSSB | 165679 | serine palmitoyltransferase small subunit B | Q8NFR3 |
| C0036341 | Schizophrenia | MDGA1 | 266727 | MAM domain containing glycosylphosphatidylinositol anchor 1 | Q8NFP4 |
| C0027651 | Neoplasms | MDGA1 | 266727 | MAM domain containing glycosylphosphatidylinositol anchor 1 | Q8NFP4 |
| C1269683 | Major Depressive Disorder | MDGA1 | 266727 | MAM domain containing glycosylphosphatidylinositol anchor 1 | Q8NFP4 |
| C0026691 | Mucocutaneous Lymph Node Syndrome | MDGA1 | 266727 | MAM domain containing glycosylphosphatidylinositol anchor 1 | Q8NFP4 |
| C0041696 | Unipolar Depression | MDGA1 | 266727 | MAM domain containing glycosylphosphatidylinositol anchor 1 | Q8NFP4 |
| C0005586 | Bipolar Disorder | MDGA1 | 266727 | MAM domain containing glycosylphosphatidylinositol anchor 1 | Q8NFP4 |
| C0699790 | Colon Carcinoma | B3GNT7 | 93010 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 | Q8NFL0 |
| C0007102 | Malignant tumor of colon | B3GNT7 | 93010 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 | Q8NFL0 |
| C3808991 | NGLY1 deficiency | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
